What Causes Differences in the Severity of Cystic Fibrosis?
Sunday, December 27th, 2009 at
2:51 pm
Emma asked:
I have identical twin girls (they’re 16) who have Cystic Fibrosis, they have always been in the same environment, but they seem to have two different severity levels of Cystic Fibrosis, one of my twins is sick very often and has had to spend numerous amounts of time in hospital, has much lower lung function, needs a feeding tube, and will need a lung transplant eventually, my other daughter does not get sick and get infections that much and has always been a lot stronger. What actually causes the differences since they are identical twins?
Tagged with: Feeding Tube • Identical Twins • Lung Transplant
Filed under: Cystic Fibrosis
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that’s the $64,000 question. This is a good question and it’s one we really don’t know the answer to yet.
It does give an example of how your genotype doesn’t always predict your phenotype.
My CF patients tell me frequently that they have the worst mutation, but their lung function is excellent and they are as healthy as I am.
One theory is that there are modifier genes that we just don’t know much about at this point, or how to turn them on or off. If we knew how to do that, we would have a cure for cancer too. It is perhaps why one twin has more symptoms than the other.
Different mutations of the disease may play a part in this. However, this cannot be ruled at the answer either. For example, I have CF as well, my mutation is the G551D, and right now I am currently in a study with 2 other people at my CF center (about 80-120 in the US hopefully at the end) and even at my center 5 people have this mutation. I am about 50% lung function (this is very good for me) but have spent a lot of time in the 40%. To be in this study your lung function had to be over 40% and stable. One girl is not able to participate because she is under that mark, and one boy is in the 90′s so he cannot participate because he is doing too well! I think that Cystic Fibrosis is still really misunderstood, and not everything is known yet about it. Everyday there are new treatments that are developing to make life better. Right now I am a lot healthier than my older sister who does not have CF! I have not been ill in nearly a year, which is amazing to me because for about 3 years I consistently had IV therapy every 3 to 4 months for about 2 months at a time.
My 4yr old grandson has cf and hasn’t been in hospital for over a year ,although he is on antibiotic at this time for a little cold, he is very lucky with not too many problems with his lungs , but he does have digest problems and colon relapse , which is finding difficult he is going into the Royal London soon for surgery, hop fully this will cure the colon problem, he also a normal size for his age and very active happy little boy and that is the best we can hope for , with this illness , love to ride4lif xxxxx